المؤلفون: Florencia Giliberto, Alberto Dubrovsky, Lilia Mesa, Jose Corderi, Micaela Carcione, Leonela Natalia Luce, Chiara Mazzanti

المصدر: Neuromuscular Disorders. 31:S83

مصطلحات موضوعية: Genetics, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c0c927fd3ac19af8145e79f4f20c088b
https://doi.org/10.1016/j.nmd.2021.07.139

المؤلفون: D. Flores, Alberto Dubrovsky, Jose Corderi, F. Chloca, A. Jauregui

المصدر: Neuromuscular Disorders. 28:S136-S137

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f7a1d2c6556a1de09ce76622b14c2b36
https://doi.org/10.1016/j.nmd.2018.06.401

المؤلفون: Lisa Wahlgren, Cameron Kennedy, Betsy Malkus, Justin Malane, Casey Nguyen, Anjali Gupta, Erica Goude, Linda Johnson, Heather Gordish-Dressman, Victoria Rodriguez, Marcia Margolis, Susan Blair, Angela Gonzales, David D. Kilmer, Lori Walker, Paola Canelos, Julaine Florence, Amy Erickson, Jay Han, Angela Chiu, Laila Eliasoph, Nancy L. Kuntz, Gareth Parry, Eugenio Monasterio, Luz Andreone, Valentina Morettini, Zoë Sund, Avital Cnaan, Jason Weimer, Lucia Chen, Krista Coleman-Wood, Alina Nicorici, Ann Hoffman, Michelle Cregan, Hanna Kolski, Lauren P. Morgenroth, Richard Webster, Lorena Levi, C. Chidambaranathan, Paul Golumbak, Dani Villano, Reiko Shimizu, Stephanie Wicks, Caitlin Wright, Naomi Bartley, Alessandro Molteni, Anne Christine Alhander, Renee Renna, Hoda Abdel-Hamid, Christopher G. Bise, Duygu Selcen, Glenn Lopate, Debbie Yaffe, Suresh Kumar, K. Carroll, Rachel Young, Jennifer Thannhauser, Pura Fuste, David Walk, Ann Craig, Rachel A. Kennedy, T. Duong, Karen Jones, Elizabeth Hosaki, Elana Wisband, Robert S. McNeil, M. Al-Lozi, Wendy Korn-Petersen, Kristy Rose, Paula R. Clemens, Katy DeValle, Luca Capone, Jeanine Schierbacker, Catherine Seiner, Marissa Birkmeier, Robert Casper, Antonio Arrieta, Anna Karin Kroksmark, Sarah Kaminski, Mehrnaz Yousefi, Vivienne Harris, Maria Beneggi, Andrew J. Kornberg, Sheila Espada, Barbara Grillo, Cameron E. Naughton, Merete Glick, Christopher F. Spurney, Adina Bar Leve, Nanette C. Joyce, Jose Corderi, Ulrika Sterky, Carlos A. Luciano, Cassandra Feliciano, A. Zimmerman, Anne Berit Ekström, Judy Clift, Meegan Barrett-Adair, F. Hu, Brenda Deliz, Charlie Wulf, Lilia Mesa

المصدر: Muscle & Nerve. 50:250-256

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, Physiology, business.industry, Duchenne muscular dystrophy, Cardiomyopathy, medicine.disease, nervous system diseases, Natural history, Cellular and Molecular Neuroscience, Physiology (medical), mental disorders, Physical therapy, medicine, In patient, Neurology (clinical), business, Natural history study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f688f697e6c7b61c694c2a2c0f4defe9
https://doi.org/10.1002/mus.24163

المؤلفون: F. Chloca, D. Flores, Alberto Dubrovsky, A. Jauregui, Jose Corderi, Lilia Mesa

المصدر: Neuromuscular Disorders. 28:S39

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Duchenne muscular dystrophy, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.disease, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ba07558d3b2f38766545a07f291169a5
https://doi.org/10.1016/j.nmd.2018.06.056

المؤلفون: Theodora Karasarides, Ana Lia Taratuto, Alberto Dubrovsky, Jose Corderi

المصدر: Muscle & Nerve. 47:594-600

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Proximal muscle weakness, Physiology, business.industry, Disease progression, Signs and symptoms, Disease, Enzyme replacement therapy, Disease cluster, Surgery, Cellular and Molecular Neuroscience, Muscle nerve, Physiology (medical), Medicine, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::002848eb5938ee7eea4bd3ec0805cb45
https://doi.org/10.1002/mus.23643

المؤلفون: Min Lin, Priya S. Kishnani, Alberto Dubrovsky, Jose Corderi, Harrison N. Jones

المصدر: Muscle & Nerve. 44:897-901

مصطلحات موضوعية: Weakness, Pediatrics, medicine.medical_specialty, Physiology, business.industry, medicine.disease, Dysphagia, Asymptomatic, Cellular and Molecular Neuroscience, Dysarthria, medicine.anatomical_structure, Tongue, Physiology (medical), Glycogen storage disease type II, Physical therapy, Medicine, Neurology (clinical), medicine.symptom, Differential diagnosis, Age of onset, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cd9097b6264f5d198d5e05828a5a7a74
https://doi.org/10.1002/mus.22202

المؤلفون: Stephanie Austin, Ramin Javan, Priya S. Kishnani, Alberto Dubrovsky, Jose Corderi, Jeffrey J. Horvath, Mustafa R. Bashir, Laura E. Case

المصدر: Muscle & Nerve. 48:293-295

مصطلحات موضوعية: Adult, Weakness, Pathology, medicine.medical_specialty, Physiology, Quantitative magnetic resonance imaging, Physical examination, Biology, Severity of Illness Index, Correlation, Cellular and Molecular Neuroscience, Physiology (medical), Image Processing, Computer-Assisted, medicine, Humans, Glycogen storage disease, Muscular dystrophy, Amyotrophic lateral sclerosis, Process (anatomy), medicine.diagnostic_test, Muscles, Neuromuscular Diseases, medicine.disease, Magnetic Resonance Imaging, Female, Neurology (clinical), medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a934cc3ab3b0e2b9e3c9aacd8b43b8
https://doi.org/10.1002/mus.23780

المؤلفون: Ricardo Reisin, Marcelo Rugiero, Ana Lia Taratuto, Nélida Ferradás, Fabiana Lubieniecki, Marisa Zgaga, Marina Szlago, Daniel Carlés, Claudio Mazia, Andrea Schenone, Soledad Monges, Ernesto Fulgenzi, Lilia Mesa, João Bosco Pesquero, Alejandro Fainboim, Alberto Dubrovsky, Jose Corderi, Eduardo L De Vito, Hernan Amartino, Norberto Guelbert

مصطلحات موضوعية: Enfermedad de Pompe, CIENCIAS MÉDICAS Y DE LA SALUD, Glucogenosis tipo ii, business.industry, Neurología Clínica, Medicina Clínica, Alfa-glucosidasa ácida, Deficiencia de maltasa ácida lisosomal, Neurology, Consenso, Sistema Respiratorio, Medicine, Neurology (clinical), business, Humanities, Terapia de reemplazo enzimático

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da9d0411dd99a2d7d0e70c3486a40546
http://www.sciencedirect.com/science/article/pii/S1853002814000081

المؤلفون: Alberto, Dubrovsky, Jose, Corderi, Theodora, Karasarides, Ana Lia, Taratuto

المصدر: Musclenerve. 47(4)

مصطلحات موضوعية: Adult, Male, Delayed Diagnosis, Muscle Weakness, Glycogen Storage Disease Type II, alpha-Glucosidases, Neuromuscular Diseases, Middle Aged, Diagnosis, Differential, Humans, Enzyme Replacement Therapy, Female, Respiratory Insufficiency, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e31c1a25d3506bf3c2121fc49d733c9b
https://pubmed.ncbi.nlm.nih.gov/23463700

المؤلفون: Alberto, Dubrovsky, Jose, Corderi, Min, Lin, Priya S, Kishnani, Harrison N, Jones

المصدر: Musclenerve. 44(6)

مصطلحات موضوعية: Adult, Male, Young Adult, Muscle Weakness, Phenotype, Adolescent, Glycogen Storage Disease Type II, Humans, Female, Age of Onset, Middle Aged, Aged, Tongue Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::498fabe018ef13e12eb0ae956722c641
https://pubmed.ncbi.nlm.nih.gov/21953123